Gene: Gad1 MGI:95632

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

glutamate decarboxylase 1

Synonyms:

GAD25, Gad-1, EP10, GAD67, GAD44, Z49976

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gad1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gad1 (1 diseases)
Human diseases predicted to be associated with Gad1 (1178 diseases)

The table below shows human diseases associated to Gad1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Developmental And Epileptic Encephalopathy 89		Microretrognathia, Thin upper lip vermilion, Cleft palate, Death in childhood, Long philtrum, Neo...	OMIM:619124

The table below shows human diseases predicted to be associated to Gad1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Syngnathia	Cleft palate	OMIM:119550
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Perching Syndrome	Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia	OMIM:617055
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle...	ORPHA:141152
Uvula, Bifid	Bifid uvula	OMIM:192100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intes...	OMIM:251850
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
2q33.1 deletion syndrome	Inguinal hernia, High palate, Cleft palate	DECIPHER:51
Epilepsy, Familial Adult Myoclonic, 1	Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,...	OMIM:601068
Trehalase Deficiency	Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d...	ORPHA:103909
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting	ORPHA:313906
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Chronic Hiccup	Malnutrition, Dehydration, Abnormal eating behavior	ORPHA:396
Ehlers-Danlos Syndrome, Periodontal Type, 2	Inguinal hernia, Atypical scarring of skin, Gingival fragility, Periodontitis, Gingival bleeding,...	OMIM:617174
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S...	ORPHA:137935
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos...	ORPHA:103907
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Umbilical hernia, Inguinal hernia, Accessory oral frenulum	ORPHA:1373
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Pierre Robin Syndrome	Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw...	OMIM:261800
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
High Altitude Pulmonary Edema	Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug...	ORPHA:330012
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Bifid uvula, Cleft palate	OMIM:258320
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Hyperekplexia 4	Inguinal hernia, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly, Umbilica...	OMIM:618011
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Macroglossia, High palate, Umbilical hernia	OMIM:616025
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass opacific...	ORPHA:1302
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido...	ORPHA:2004
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Primary Effusion Lymphoma	Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties	OMIM:616341
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting, Dehydration	OMIM:610370
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As...	ORPHA:2902
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula	ORPHA:2736
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Diastasis recti, Gingival bleeding	OMIM:606893
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre...	OMIM:619445
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention, Elevated circulating alkaline phosphatase concentration	OMIM:174050
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Alpha-Methylacetoacetic Aciduria	Vomiting, Dehydration	OMIM:203750
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth	ORPHA:2901
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea, Feeding difficulties	OMIM:610992
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Dehydration	OMIM:614265
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra...	OMIM:616974
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Wide mouth, Umbilical hernia, Downturned corners of mouth, High, narrow palate	OMIM:273390
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Ch...	OMIM:620233
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Adiposis Dolorosa	Abdominal distention, Constipation, Painful subcutaneous lipomas	OMIM:103200
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog...	ORPHA:254361
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Muscular Hypertonia, Lethal	Umbilical hernia	OMIM:254120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Familial Cold Urticaria	Nausea and vomiting, Abdominal pain, Erythema, Dehydration, Urticaria, Polydipsia	ORPHA:47045
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re...	OMIM:614399
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi...	OMIM:605809
Isolated Pierre Robin Syndrome	Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate	ORPHA:718
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Feeding difficulties, High palate, Neonatal ...	OMIM:300219
Thyroid Hemiagenesis	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95719
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency, Nasal regurgitation, Dysphagia	OMIM:617732
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Auriculocondylar Syndrome 2A	Respiratory distress, Dental crowding, Apnea, Microglossia, Dental malocclusion, Cleft palate, Ma...	OMIM:614669
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Feedi...	ORPHA:137914
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Polydipsia	ORPHA:178029
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Hernia	ORPHA:75497
Fetal Minoxidil Syndrome	Umbilical hernia	ORPHA:1918
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Vomiting, Decreased liver function, Dehydration	OMIM:602199
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd...	OMIM:606824
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating enzyme concentration or activity, Restlessness, Abdominal pain, Abnormal ery...	ORPHA:100924
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m...	ORPHA:95427
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower...	OMIM:620321
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate	ORPHA:2521
Enteric Anendocrinosis	Diarrhea, Vomiting, Dehydration, Malabsorption	ORPHA:83620
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Umbilical hernia, Macroglossia	OMIM:275100
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Isobutyryl-Coa Dehydrogenase Deficiency	Vomiting, Dehydration	ORPHA:79159
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Birk-Barel Syndrome	Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi...	OMIM:612292
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er...	OMIM:614608
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Prod...	ORPHA:454836
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res...	ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy	Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di...	ORPHA:238329
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Thyroid Dyshormonogenesis 1	Macroglossia, Umbilical hernia	OMIM:274400
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Neonatal respirato...	OMIM:615042
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M...	ORPHA:1832
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn...	ORPHA:2257
Inflammatory Skin And Bowel Disease, Neonatal, 2	Secretory diarrhea, Vomiting, Polyhydramnios, Dehydration	OMIM:616069
Chromosome 6Q11-Q14 Deletion Syndrome	Thin upper lip vermilion, Inguinal hernia, High palate, Long philtrum, Umbilical hernia, Smooth p...	OMIM:613544
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti...	ORPHA:226313
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Hypoglossia With Situs Inversus	Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi...	OMIM:612776
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Ground-glass opacification, Intralobular septal thi...	OMIM:619611
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin...	ORPHA:254864
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Narrow mouth,...	OMIM:615834
Maculopapular Cutaneous Mastocytosis	Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, E...	ORPHA:79457
Letterer-Siwe Disease	Abdominal distention, Jaundice, Dyspnea, Pulmonary infiltrates, Stomatitis	OMIM:246400
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu...	ORPHA:2414
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Cleft palate, Oligodontia, High palate, Umbilical hernia, Joint contracture of t...	OMIM:600325
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis, Tented upper lip vermilion, Tracheomalacia	ORPHA:896
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Arthrogryposis mult...	OMIM:201550
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Combined Oxidative Phosphorylation Deficiency 47	Long philtrum, Dehydration, Dysphagia	OMIM:618958
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi...	OMIM:613490
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Umbilical hernia, Open mouth, Short philtrum, Abnormal oral cavity morphology	ORPHA:1516
Athyreosis	Macroglossia, Constipation, Abdominal distention, Feeding difficulties	ORPHA:95713
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Dyspnea, Hemo...	ORPHA:199241
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Umbilical hernia	ORPHA:2349
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Dehydration, Nasogastric tube feeding	ORPHA:289504
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Cleft palate	OMIM:217150
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingival overgrowth, Wide mo...	ORPHA:137834
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Anorexia, Abdomin...	ORPHA:100085
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, ...	OMIM:608104
Reticular Dysgenesis	Diarrhea, Dehydration, Malabsorption	ORPHA:33355
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Dehydration, Death in childhood, Thin ver...	OMIM:214150
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Plantar...	ORPHA:2872
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Adams-Oliver Syndrome 4	Umbilical hernia	OMIM:615297
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties	ORPHA:79312
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Umbilical hernia, High, narrow palate	ORPHA:2181
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Abnormality...	ORPHA:915
Restrictive Dermopathy 2	Microretrognathia, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Feeding difficulties, Gas...	OMIM:619793
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence	OMIM:192445
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrop...	ORPHA:298
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Congenital contracture, Short philtrum, Joint contracture of the 5th finger, Nar...	ORPHA:352490
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Malignant Peritoneal Mesothelioma	Dyspnea, Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Anencephaly 2	Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge	OMIM:619452
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Dehydration	ORPHA:28
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth, Respiratory insufficiency	OMIM:600972
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon...	ORPHA:244
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ...	ORPHA:100057
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Recurrent respiratory infections, Protuberant abdomen, Death in infancy	OMIM:277300
Congenital Disorder Of Glycosylation, Type Iy	Wide mouth, Widely spaced teeth, Respiratory distress, Feeding difficulties	OMIM:300934
Qazi-Markouizos Syndrome	High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,...	ORPHA:3010
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho...	ORPHA:100050
Nipah Virus Disease	Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Cough	ORPHA:99825
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ...	ORPHA:319213
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Short lingual frenulum, Dental crowding, Aggressive behavior...	ORPHA:293939
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Transient Neonatal Diabetes Mellitus	Macroglossia, Dehydration	ORPHA:99886
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Autosomal Agammaglobulinemia	Sinusitis, Malabsorption, Diarrhea, Dehydration, High palate	ORPHA:33110
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we...	ORPHA:254875
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Chronic constipation	OMIM:300676
Acquired Methemoglobinemia	Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting	ORPHA:464453
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Feeding difficulties in i...	OMIM:613070
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Ectopic anus, Gastroschisis	ORPHA:2476
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo...	ORPHA:2290
Ovarian Fibroma	Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain	ORPHA:314473
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec...	ORPHA:2314
Achondrogenesis	Umbilical hernia, Inguinal hernia, Long philtrum	ORPHA:932
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot...	ORPHA:90051
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea	OMIM:240200
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Dehydration, Vomiting	ORPHA:35710
Breath-Holding Spells	Cyanosis	OMIM:607578
Imagawa-Matsumoto Syndrome	Anteriorly placed anus, Umbilical hernia, Camptodactyly	OMIM:618786
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:333
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St...	ORPHA:142
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, High palate	ORPHA:1035
Folinic Acid-Responsive Seizures	Respiratory distress, Abdominal distention, Apnea	ORPHA:79097
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Diarrhea, Feeding difficulties, Aminoaciduria, Vomiting	OMIM:612075
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck	OMIM:300580
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood	OMIM:560000
Al Amyloidosis	Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X...	ORPHA:85443
Lujan-Fryns Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala...	ORPHA:776
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Vomiting, Aggressive behavior	OMIM:237310
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:257200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist...	OMIM:613561
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Umbilical hernia, Inguinal hernia	ORPHA:2196
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Feeding difficulties in infancy, Diarrhea, Vomiting, Dehydration	OMIM:264350
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Solar Urticaria	Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De...	ORPHA:97230
Rin2 Syndrome	Irregular dentition, Gingival overgrowth, Abnormal lip morphology, High palate, Long philtrum, Um...	ORPHA:217335
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress	ORPHA:2140
Achondrogenesis Type 1B	Umbilical hernia, Femoral hernia, Long philtrum	ORPHA:93298
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Thin upper lip vermilion, Tented upper lip vermilion, Diastasis recti, High palate, Short philtru...	OMIM:616579
Congenital Heart Block	Cyanosis, Feeding difficulties in infancy, Pericardial effusion, Hydrops fetalis, Peripheral edem...	ORPHA:60041
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern...	OMIM:612938
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f...	ORPHA:75233
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Bowel inc...	ORPHA:365
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Median cleft lip, High palate, Bifid uvula, Midline central nervous system lipomas	OMIM:155145
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum	OMIM:156510
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ...	ORPHA:60033
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Atrophic...	OMIM:130080
Achondrogenesis Type 1A	Umbilical hernia, Femoral hernia, Long philtrum	ORPHA:93299
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Aggressive behavior	ORPHA:85279
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Shigellosis	Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhe...	ORPHA:810
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia, Feedin...	OMIM:616733
Esophageal Atresia	Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ...	ORPHA:1199
Meckel Syndrome, Type 8	Abdominal distention, Cleft palate, Cleft upper lip	OMIM:613885
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abdomin...	OMIM:618528
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Intellectual Developmental Disorder, Autosomal Dominant 43	Thin upper lip vermilion, Gingival overgrowth, High palate, Short philtrum, Increased overbite, N...	OMIM:616977
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Non-midline cleft lip, Abnormality of the philtrum, Cleft palate	ORPHA:1770
Mirizzi Syndrome	Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J...	ORPHA:521219
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors	ORPHA:397973
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Cleft soft palate, Abnormality of the dentition, Gingival overgrowth...	OMIM:618529
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Respiratory distress, Death in infancy, Hypertyrosinemia, Abdomina...	OMIM:617156
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Anal stenosis, Short philtrum, Everted lower lip vermilion, Hypodontia, Microdon...	OMIM:601499
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Cystinosis	Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi...	ORPHA:258
Cholesteryl Ester Storage Disease	Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr...	OMIM:278000
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Dehydration, Feeding difficulties	OMIM:177735
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, Widely spaced teeth, High palate, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Inguinal hernia, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Malaria	Nausea and vomiting, Respiratory distress	ORPHA:673
Thyroid Hypoplasia	Macroglossia, Jaundice, Constipation, Abdominal distention	ORPHA:95720
Succinic Acidemia	Respiratory distress	OMIM:600335
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties...	OMIM:620278
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon...	ORPHA:133
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morphology, Narrow m...	ORPHA:2496
Pelger-Huet Anomaly	Umbilical hernia, Abnormality of the dentition, Median cleft palate, Gingival overgrowth	OMIM:169400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d...	OMIM:618426
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition	ORPHA:2776
Bladder Exstrophy	Omphalocele, Inguinal hernia, Intestinal malrotation, Umbilical hernia, Bladder exstrophy, Abnorm...	ORPHA:93930
Silver-Russell Syndrome Due To 11P15 Microduplication	Umbilical hernia	ORPHA:231144
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Harlequin Ichthyosis	Eclabion, Self-injurious behavior, Dehydration	ORPHA:457
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre...	OMIM:211530
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Vomiting, Dehydration	OMIM:602722
Alternating Hemiplegia Of Childhood	Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal dist...	ORPHA:2131
Isovaleric Acidemia	Vomiting, Dehydration	OMIM:243500
Hypercalcemia, Infantile, 1	Vomiting, Dehydration	OMIM:143880
Corticosterone Methyloxidase Type I Deficiency	Feeding difficulties in infancy, Vomiting, Dehydration	OMIM:203400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti...	ORPHA:90003
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Luo-Schoch-Yamamoto Syndrome	Wide mouth, Widely-spaced maxillary central incisors, Thick vermilion border, Short philtrum, Nar...	OMIM:619460
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Feeding difficulties in infancy, Hypertonic dehydration, Constipation, Vomiting, Polydipsia	OMIM:304800
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Idiopathic Congenital Hypothyroidism	Macroglossia, Umbilical hernia	ORPHA:95717
Sialidosis Type 2	Umbilical hernia, Inguinal hernia, Flexion contracture	ORPHA:87876
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula, Chondrocalcinosis	OMIM:601492
Intestinal Botulism	Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,...	ORPHA:178481
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Downturned corners of mouth, Arthrogryposis-like hand anomaly, Macroglossia, Wide mouth, High pal...	ORPHA:369891
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Intermittent jaundice, Episodic abdominal pain, Elevated gamma-gl...	ORPHA:100086
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia	ORPHA:2143
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, High palate, Recurrent acute respiratory tract inf...	OMIM:620011
Encephalopathy, Ethylmalonic	Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae	OMIM:602473
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Abdominal distention	ORPHA:369
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A...	ORPHA:330015
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Inguinal hernia, Pursed lips, Elbow flexion contracture, Knee flexion contractur...	OMIM:616266
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Thin upper lip vermilion, Long philtrum	OMIM:614741
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:615595
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia	OMIM:617662
Houge-Janssens Syndrome 3	Umbilical hernia, Inguinal hernia, High palate, Short philtrum	OMIM:618354
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat...	OMIM:269860
Opitz Gbbb Syndrome	Anal atresia, Inguinal hernia, Thin upper lip vermilion, Cleft upper lip, Rectourethral fistula, ...	OMIM:300000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,...	ORPHA:927
Schisis Association	Omphalocele, Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Tracheoes...	ORPHA:63862
Double Outlet Right Ventricle	Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d...	ORPHA:3426
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Death in infancy, Abdominal distention, Pulmonary lymphangiectasia, Alv...	OMIM:235255
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Vomiting, Dehydration	OMIM:620126
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Diastasis recti, Wide mouth, Long philtrum, Umbilical hernia, Open mout...	OMIM:616638
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Zygomycosis	Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col...	ORPHA:73263
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux, Apnea	ORPHA:1949
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, High palate, Congenital diaphragmatic hernia	ORPHA:284180
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Lipoatrophy, Tooth agenesis, Everted lower lip vermilion, Um...	ORPHA:2963
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Feeding difficulties	ORPHA:26792
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Pyloric stenosis, Rectal prolapse, Recurrent pneum...	OMIM:613177
Propionic Acidemia	Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation, Vomiting	OMIM:606054
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ...	ORPHA:308552
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Dehydration	OMIM:212140
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Thin vermilion border, Long philtrum	ORPHA:171839
Methylmalonyl-Coa Epimerase Deficiency	Gastroesophageal reflux, Dehydration	OMIM:251120
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Micrognathia, Cyanotic epis...	ORPHA:284417
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni...	ORPHA:343
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou...	ORPHA:3260
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors	OMIM:618737
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti...	ORPHA:330021
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion...	ORPHA:870
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Micrognathia, Jaundice, Dehydration, Oligohydramnios	OMIM:208085
Diaphanospondylodysostosis	Respiratory distress, Cleft palate	ORPHA:66637
Cirrhosis, Familial	Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte...	OMIM:215600
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties	OMIM:620203
Gaucher Disease, Type Ii	Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera...	OMIM:230900
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Meningocele, Cleft pal...	ORPHA:2311
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Hereditary Hyperekplexia	Umbilical hernia, Esophagitis, Hernia, Hiatus hernia	ORPHA:3197
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Pursed lips, Shoulder flexion contracture, Deep philtrum, High ...	OMIM:255800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Umbilical hernia, Dental crowding, Persistence of primary teeth, Hiatus hernia	OMIM:619769
Beta-Ketothiolase Deficiency	Anorexia, Edema, Diarrhea, Dehydration, Vomiting, Agitation, Oral aversion	ORPHA:134
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Wide mouth, Abnormal up...	ORPHA:2707
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Inguinal hernia, Diastema, Downturned corners of mouth, Wide mouth, Umb...	ORPHA:329224
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r...	OMIM:620275
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas...	ORPHA:538
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Feeding difficult...	ORPHA:79113
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties	OMIM:619239
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Increased circulat...	ORPHA:93552
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo...	ORPHA:2759
Achondrogenesis, Type Ii	Microretrognathia, Polyhydramnios, Edema, Hydrops fetalis, Cleft palate, Stillbirth, Protuberant ...	OMIM:200610
Intellectual Disability, Buenos-Aires Type	Abnormal dental morphology, Open bite, Dental malocclusion, High palate, Umbilical hernia	ORPHA:3079
Acute Intermittent Porphyria	Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Restlessness, Abdomin...	ORPHA:79276
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary...	OMIM:136760
Auriculocondylar Syndrome	Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma...	ORPHA:137888
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona...	ORPHA:3392
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Angelman Syndrome	Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Feeding diffi...	OMIM:105830
Chiari Malformation Type Ii	Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia	OMIM:207950
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Inguinal hernia, Cleft palate, Long philtrum	ORPHA:2505
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Umbilical hernia, Inguinal hernia	OMIM:618272
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Restlessness, Cyanosis, Gastrointestinal d...	ORPHA:391428
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo...	ORPHA:98915
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure	OMIM:261680
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Feeding difficulties in infancy, Deep philtrum, Gingivitis, Aminoaciduria, Perio...	ORPHA:534
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Large placenta, Flexion c...	ORPHA:254528
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em...	ORPHA:2038
Cantu Syndrome	Thick lower lip vermilion, Gingival overgrowth, Long philtrum, Umbilical hernia, Thick upper lip ...	OMIM:239850
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Dehydration	ORPHA:27
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Elevated circulating aspartate aminotransferase concentratio...	OMIM:227810
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia	ORPHA:3201
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention...	OMIM:619580
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Malar flattening, Narrow mouth, Long philtrum	ORPHA:261295
Congenital Fibrinogen Deficiency	Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo...	ORPHA:335
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Feeding difficulties	OMIM:143860
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal pain, Abdominal distention, Ileus, Neoplasm of the lung	ORPHA:83469
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal distention, Jaundic...	ORPHA:469
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Thin vermilion border, Short philtrum, Feeding difficulties	ORPHA:261304
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate, Polyhydramnios, Micrognathia, Nasogastric tube feeding in infancy, Gastroesoph...	ORPHA:93316
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Exaggerated cupid's bow, Deep philtrum, Thin vermilion border, Umbil...	OMIM:615879
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted...	ORPHA:85321
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth, Protuberant abd...	OMIM:617102
Acrocephalopolydactyly	Protuberant abdomen	ORPHA:221054
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand	OMIM:175700
Agnathia-Otocephaly Complex	Respiratory distress, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Tracheomalacia,...	OMIM:202650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Large placenta, Umbilical hernia, Diastasis recti	ORPHA:254534
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio...	OMIM:557000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i...	OMIM:106260
Cholera	Miscarriage, Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Abdominal cramps, Vomiting, Pal...	ORPHA:173
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum	ORPHA:93945
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Feeding d...	OMIM:620157
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness	OMIM:300266
Early-Onset Familial Hypoaldosteronism	Vomiting, Dehydration, Feeding difficulties	ORPHA:556030
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Crackles, Portal hypertension, Abnormal pleura morphology, Dyspnea...	ORPHA:210136
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract...	ORPHA:51890
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Recurrent intrapulmonary...	ORPHA:183
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Thin upper lip vermilion, Respiratory distress, Recurrent respirat...	ORPHA:329178
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Dend Syndrome	Downturned corners of mouth, Vomiting, Dehydration, Long philtrum	ORPHA:79134
Meckel Syndrome 14	Microretrognathia, Cyanosis, Micrognathia, Abdominal distention, Increased nuchal translucency, P...	OMIM:619879
Hydrolethalus	Polyhydramnios, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilater...	ORPHA:2189
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Feeding diffi...	OMIM:619383
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Pulmonary hypoplasia, Cleft palate	ORPHA:85166
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, Carious teeth, Velopha...	OMIM:129400
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood, Feeding difficulties	OMIM:615597
Distal Deletion 19P	Vaginal hernia, Cleft palate, Umbilical hernia, Short philtrum, Keloids	ORPHA:96129
Lymphatic Malformation 7	Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema	OMIM:617300
Familial Visceral Myopathy	Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:2604
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Velocardiofacial Syndrome	Inguinal hernia, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence...	OMIM:192430
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Lamellar Ichthyosis	Everted lower lip vermilion, Dehydration, Abnormality of the dentition	ORPHA:313
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	OMIM:309520
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ...	ORPHA:1876
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Generalized aminoaciduria, Vomiting, Pulmonary hypoplasia, Neonat...	OMIM:231680
Chylomicron Retention Disease	Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabso...	ORPHA:71
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, High palate, Micrognathia	ORPHA:3304
Buerger Disease	Acrocyanosis	ORPHA:36258
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Nausea and vomiting, Gastrointestinal hemor...	ORPHA:537
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Death in early adulthood, Abnormal dental m...	ORPHA:192
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:348
Idiopathic Neonatal Atrial Flutter	Feeding difficulties in infancy, Tachypnea, Respiratory distress	ORPHA:45452
Vipoma	Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr...	ORPHA:97282
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Polyhydramnios, Dehydration	OMIM:214700
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in...	ORPHA:314655
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Atrophic scars,...	OMIM:225410
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti...	ORPHA:1307
Nephrotic Syndrome, Type 1	Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention	OMIM:256300
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Micrognathia, Trismus, Dehydration, Feeding difficulties, Tube feeding	OMIM:616271
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Dysphagia, Everted lower lip vermilion,...	OMIM:608013
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Respiratory distress, High, narrow palate, Telangiectasia, Smooth ...	OMIM:608799
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi...	ORPHA:275761
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain, Increased...	ORPHA:370348
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Icf Syndrome	Macroglossia, Umbilical hernia, Malabsorption, Protruding tongue	ORPHA:2268
Ehlers-Danlos Syndrome, Classic-Like, 2	Ventral hernia, Inguinal hernia, Atypical scarring of skin, Atrophic scars, High palate, Cellulit...	OMIM:618000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Tracheomalacia, Carious teeth, Atelectasis, Respir...	ORPHA:536467
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency, High palate, Tongue fasciculations, Poor suck	ORPHA:1145
Amish Lethal Microcephaly	Death in infancy, Feeding difficulties, Cleft soft palate, Micrognathia	ORPHA:99742
Amme Complex	Umbilical hernia, Inguinal hernia, Thin upper lip vermilion, Diastasis recti	OMIM:300194
Bronchial Neuroendocrine Tumor	Pneumonia, Poor appetite, Anorexia, Bowel urgency, Nonproductive cough, Dyspnea, Asthma, Wheezing...	ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I...	OMIM:604377
Pancreatoblastoma	Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting	ORPHA:677
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency

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